Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to

Alternative Names

  • NAION, Susceptibility to
  • Optic Neuropathy, Anterior Ischemic, Susceptibility to
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of optic nerve and visual pathways

OMIM Number

258660

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17p13.2

Description

Nonarteritic anterior ischemic optic neuropathy is the most common type of ischemic optic neuropathy, a condition in which insufficient blood supply to the optic nerve damages it, resulting in loss of vision.  NAION mostly develops in adults over the age of 50.  It affects between 2.3 and 10.3 people per 100,000 individuals per year.  Patients with NAION will typically have some or all of the signs of an optic neuropathy including decreased visual acuity, dyschromatopsia, an RAPD, a swollen optic nerve with splinter hemorrhages, and a visual field defect.  Visual loss is usually sudden, or over a few days at most, and is usually permanent, with some recovery possibly occurring within the first weeks or months.

The diagnosis of NAION is based on the typical symptoms and signs.  While some rare causes of NAION are treatable, there is no effective treatment to reverse NAION in the vast majority of cases once it happens.

Molecular Genetics

Mutations within the GP1BA gene, located on chromosome 17p13.2 have been associated with significant risk for NAION disease.  Also mutations within the mitochondrial Cytochrome c Oxidase III gene have been identified in patients with NAION disease.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Abu-Amero et al. (2005) described a 70 year-old man from Saudi Arabia with non-arteritic anterior ischemic optic neuropathy.  At the age of 69 years, he had grand mal seizures that were controlled with carbamazepine.  He lost his vision in his right eye at the age of 80 years over a period of several days.  His visual acuity with OD was counting fingers at 5’ with moderate pallid edema of the optic disc and residual temporal island of vision.  He had flat and pale optic disk in his left eye with no improvement in the vision OU.   His MR imaging showed mild cortical atrophy with no evidence of an epileptogenic lesion and no changes typical of MELAS.  His entire mitochondrial coding region was sequenced; nt9957 mutation within the MT-CO3 gene was found.

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